Variant report

Variant	rs6571919
Chromosome Location	chr14:39789311-39789312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:53367174..53369415-chr14:39788730..39790258,2	MCF-7	breast:
2	chr14:39646967..39649326-chr14:39786577..39789569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100941	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10130008	0.82[ASN][1000 genomes]
rs10131617	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs10133417	0.96[CHB][hapmap];0.96[JPT][hapmap]
rs10134365	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs10137052	0.84[ASN][1000 genomes]
rs10137352	0.96[CHB][hapmap];0.96[JPT][hapmap];0.84[ASN][1000 genomes]
rs10137905	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs10138869	0.87[JPT][hapmap]
rs10151659	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs10162550	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs1040810	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10872920	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11157053	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11157054	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11157057	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11157058	0.92[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs11157059	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11620695	0.96[CHB][hapmap];0.96[JPT][hapmap]
rs11621330	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11624144	0.86[ASN][1000 genomes]
rs11626679	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs11627580	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs12432397	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12434140	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12587713	0.96[CHB][hapmap];0.96[JPT][hapmap]
rs12880609	0.81[ASN][1000 genomes]
rs12883781	0.82[ASN][1000 genomes]
rs12894855	0.87[JPT][hapmap]
rs12897272	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1570132	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1594842	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs17109021	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs17109028	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs17109073	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs17109100	0.84[ASN][1000 genomes]
rs1897792	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs1950952	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1998194	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2082635	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2274395	0.81[JPT][hapmap]
rs2274396	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2274399	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs28619058	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814860	0.81[JPT][hapmap]
rs4899227	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902470	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4902528	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902569	0.86[JPT][hapmap]
rs4902570	0.86[JPT][hapmap]
rs4902622	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs62000670	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6571915	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7140164	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7143646	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs7148150	0.96[CHB][hapmap];0.96[JPT][hapmap];0.84[ASN][1000 genomes]
rs7148377	0.83[JPT][hapmap]
rs7151835	0.82[ASN][1000 genomes]
rs7152341	0.82[JPT][hapmap]
rs7153482	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs718364	0.82[JPT][hapmap]
rs719455	0.84[CHB][hapmap]
rs8003117	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8004716	0.96[CHB][hapmap];0.96[JPT][hapmap];0.83[ASN][1000 genomes]
rs8006321	0.81[JPT][hapmap]
rs8009651	0.84[ASN][1000 genomes]
rs8014123	0.81[ASN][1000 genomes]
rs8018717	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs910370	0.84[CHB][hapmap]
rs9322998	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs956109	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
3	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
5	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:39759400-39801800	Weak transcription	NHLF	lung
10	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
11	chr14:39764600-39790000	Weak transcription	Fetal Brain Female	brain
12	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:39764800-39802400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:39764800-39805200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:39765600-39789400	Weak transcription	HMEC	breast
17	chr14:39765600-39803800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:39766800-39790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:39766800-39791800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:39767000-39796000	Weak transcription	Thymus	Thymus
22	chr14:39767200-39801400	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:39767200-39801600	Weak transcription	Right Ventricle	heart
24	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
25	chr14:39769800-39796000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:39769800-39796000	Weak transcription	Dnd41	blood
27	chr14:39769800-39808000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:39770000-39816400	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
31	chr14:39771800-39789600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:39771800-39791800	Weak transcription	HUVEC	blood vessel
33	chr14:39771800-39792000	Weak transcription	A549	lung
34	chr14:39771800-39796200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:39772000-39796200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:39772200-39791800	Weak transcription	HSMMtube	muscle
37	chr14:39772600-39808000	Weak transcription	Fetal Heart	heart
38	chr14:39773200-39802400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:39773400-39801800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:39778600-39791800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:39778800-39796200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:39779000-39789400	Weak transcription	Osteobl	bone
43	chr14:39779000-39801400	Weak transcription	Fetal Thymus	thymus
44	chr14:39780000-39801000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr14:39781400-39794400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:39782800-39808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:39783200-39790400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr14:39783200-39794400	Strong transcription	Fetal Intestine Large	intestine
49	chr14:39784000-39790400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:39785000-39790200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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